ClinVar Miner

Submissions for variant NM_138288.4(SPTSSA):c.152C>T (p.Thr51Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003234737 SCV003932617 pathogenic Spastic paraplegia 90A, autosomal dominant 2023-12-07 no assertion criteria provided literature only
Undiagnosed Diseases Network, NIH RCV003234738 SCV003932632 uncertain significance SPTSSA-related disorder 2022-12-19 no assertion criteria provided clinical testing

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